gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53849695C>T , CM000665.2:g.53849695C>T | GRCh38 |
| NC_000003.11:g.53883722C>T , CM000665.1:g.53883722C>T | GRCh37 |
| NC_000003.10:g.53858762C>T | NCBI36 |
| NG_028042.1:g.1699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288167.8:c.126C>T MANE Select | ENSP00000288167.3:p.Pro42= | |
| ENST00000288167.7:c.126C>T | ENSP00000288167.3:p.Pro42= | |
| ENST00000475124.1:n.131C>T | ||
| ENST00000494338.1:c.126C>T | ENSP00000418638.1:p.Pro42= | |
| NM_018725.3:c.126C>T | NP_061195.2:p.Pro42= | |
| XM_005265310.3:c.126C>T | XP_005265367.1:p.Pro42= | |
| XM_005265311.3:c.126C>T | XP_005265368.1:p.Pro42= | |
| XM_005265312.3:c.126C>T | XP_005265369.1:p.Pro42= | |
| XM_011533941.1:c.126C>T | XP_011532243.1:p.Pro42= | |
| XR_245147.3:n.165C>T | ||
| XR_940467.1:n.165C>T | ||
| XR_940468.1:n.165C>T | ||
| XM_005265310.5:c.126C>T | XP_005265367.1:p.Pro42= | |
| XM_005265311.5:c.126C>T | XP_005265368.1:p.Pro42= | |
| XM_005265312.5:c.126C>T | XP_005265369.1:p.Pro42= | |
| XM_011533941.3:c.126C>T | XP_011532243.1:p.Pro42= | |
| XM_017006804.2:c.-98C>T | XP_016862293.1:n.-98C>T | |
| XM_017006805.2:c.-98C>T | XP_016862294.1:n.-98C>T | |
| XM_017006806.2:c.-98C>T | XP_016862295.1:n.-98C>T | |
| XM_017006807.2:c.126C>T | XP_016862296.1:p.Pro42= | |
| XM_024453634.1:c.126C>T | XP_024309402.1:p.Pro42= | |
| XM_024453635.1:c.126C>T | XP_024309403.1:p.Pro42= | |
| XM_024453636.1:c.126C>T | XP_024309404.1:p.Pro42= | |
| NM_018725.4:c.126C>T MANE Select | NP_061195.2:p.Pro42= |